Etiologies and molecular mechanisms of communication disorders

Journal of Developmental and Behavioral Pediatrics

Volumn 31, Issue 7, 2010, Pages 555-563

  Smith, Shelley D ^a   Grigorenko, Elena ^b   Willcutt, Erik ^c   Pennington, Bruce F ^d   Olson, Richard K ^c   Defries, John C ^c  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF COLORADO   (United States)

^d UNIVERSITY OF DENVER   (United States)

Author keywords

autism; dyslexia; language impairment; molecular genetics; reading disability

Indexed keywords

ARTICLE; AUTISM; CHILD; COMMUNICATION DISORDER; DYSLEXIA; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HUMAN; LANGUAGE DISABILITY; PHENOTYPE; PSYCHOLOGICAL ASPECT; RISK FACTOR; SPEECH DISORDER;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COMMUNICATION DISORDERS; DYSLEXIA; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; LANGUAGE DISORDERS; PHENOTYPE; RISK FACTORS; SPEECH DISORDERS;

EID: 77957328900     PISSN: 0196206X     EISSN: None     Source Type: Journal    
DOI: 10.1097/DBP.0b013e3181ee3d9e     Document Type: Article

References (76)

1. American Psychological Association (APA). Diagnostic and Statistical Manual of Mental Disorders: DSM-IV-TR. Washington, DC: APA; 2000.
2. Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature. 2010;464:704-712.
3. Merikangas AK, Corvin AP, Gallagher L. Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet. 2009;25:536-544.
4. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82:477-488.
5. Elia J, Gai X, Xie HM, et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry. 2010;15:637-646.
6. Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009;84:148-161.
7. de Smith AJ, Walters RG, Coin LJ, et al. Small deletion variants have stable breakpoints commonly associated with alu elements. PLoS One. 2008;3:e3104.
8. Vissers LE, Bhatt SS, Janssen IM, et al. Rare pathogenic microdeletions and tandem duplications are microhomologymediated and stimulated by local genomic architecture. Hum Mol Genet. 2009;18:3579-3593.
9. Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010;61:437-455.
10. McCarroll SA. Extending genome-wide association studies to copy-number variation. Hum Mol Genet. 2008;17:R135-R142.
11. O'Donovan MC, Kirov G, Owen MJ. Phenotypic variations on the theme of CNVs. Nat Genet. 2008;40:1392-1393.
12. Bruder C, Piotrowski A, Gijsbers AA, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008;82:763-771.
13. Tao Y, Sam L, Li J, Friedman C, Lussier YA. Information theory applied to the sparse gene ontology annotation network to predict novel gene function. Bioinformatics. 2007;23:i529-i538.
14. Chen Y, Zhu J, Lum PY, et al. Variations in DNA elucidate molecular networks that cause disease. Nature. 2008;452:429-435.
15. Huang da W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009;4:44-57.
16. Grigorenko EL. Speaking genes or genes for speaking? Deciphering the genetics of speech and language. J Child Psychol Psychiatry. 2009;50:116-125.
17. De Fries JC, Gillis JJ. Genetics of reading disability. In: Plomin R, McClearn G, eds. Nature, Nature, and Psychology. Washington, DC: APA Press; 1993;121-146.
18. De Fries JC, Alarcón M. Genetics of specific reading disability. Ment Retard Dev Disabil Res Rev. 1996;2:39-47.
19. Hawke JL, Wadsworth SJ, De Fries JC. Genetic influences on reading difficulties in boys and girls: the Colorado twin study. Dyslexia. 2006;12:21-29.
20. Astrom RL, Wadsworth SJ, De Fries JC. Etiology of the stability of reading difficulties: the longitudinal twin study of reading disabilities. Twin Res Hum Genet. 2007;10:434-439.
21. Pennington BF, Gilger JW, Pauls D, Smith SA, Smith SD, De Fries JC. Evidence for major gene transmission of developmental dyslexia. JAMA. 1991;266:1527-1534.
22. Gilger JW, Borecki IB, De Fries JC, Pennington BF. Commingling and segregation analysis of reading performance in families of normal reading probands. Behav Genet. 1994;24:345-355.
23. Wijsman EM, Peterson D, Leutenegger AL, et al. Segregation analysis of phenotypic components of learning disabilities. I. Nonword memory and digit span. Am J Hum Genet. 2000;67:631-646.
24. Chapman NH, Raskind WH, Thomson JB, Berninger VW, Wijsman EM. Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding. Am J Med Genet B Neuropsychiatr Genet. 2003;121B:60-70.
25. Taipale M, Kaminen N, Nopola-Hemmi J, et al. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A. 2003;100:11553-11558.
26. Schumacher J, Anthoni H, Dahdouh F, et al. Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet. 2006;78:52-62.
27. Cope N, Harold D, Hill G, et al. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet. 2005;76:581-591.
28. Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, et al. The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet. 2005;1:e50.
29. Anthoni H, Zucchelli M, Matsson H, et al. A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet. 16, 667-677.
30. Couto JM, Gomez L, Wigg K, et al. The KIAA0319-like (KIAA0319L) Gene on chromosome 1p34 as a candidate for reading disabilities. J Neurogenet. 2008;22:295-313.
31. Roeske D, Ludwig KU, Neuhoff N, et al. First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. Mol Psychiatry. In press.
32. Paracchini S, Thomas A, Castro S, et al. The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet. 2006;15:1659-1666.
33. Meng H, Smith SD, Hager K, et al. DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci U S A. 2005;102:17053-17058.
34. Wang Y, Paramasivam M, Thomas A, et al. DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience. 2006;143:515-522.
35. Kidd T, Brose K, Mitchell KJ, et al. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. Cell. 1998;92:205-215.
36. Galaburda AM, Lo Turco J, Ramus F, Fitch RH, Rosen GD. From genes to behavior in developmental dyslexia. Nat Neurosci. 2006;9:1213-1217.
37. Massinen S, Tammimies K, Tapia-Paez I, et al. Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Hum Mol Genet 2009;18:2802-2812.
38. Tallal P. Developmental dysphasia. In: Adelman G, ed. Encyclopedia of Neuroscience. Vol 1. Boston, MA: Birkhauser; 1987;351-353.
39. Leonard LB. Language learnability and specific language impairment in children. Appl Psycholinguist. 1989;10:179-202.
40. Tomblin JB, Records NL, Buckwalter P. et al. Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res. 1997;40:1245-1260.
41. Tomblin JB, Buckwalter PR. Heritability of poor language achievement among twins. J Speech Lang Hear Res. 1998;41:188-199.
42. Dale PS, Simonoff E, Bishop DV, et al. Genetic influence on language delay in two-year-old children. Nat Neurosci. 1998;1:324-328.
43. Bishop DV, Hayiou-Thomas ME. Heritability of specific language impairment depends on diagnostic criteria. Genes Brain Behav. 2008;7:365-372.
44. Pennington BF, Bishop DV. Relations among speech, language, and reading disorders. Annu Rev Psychol. 2009;60:283-306.
45. SLI Consortium. A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet. 2002;70:384-398.
46. SLI Consortium. Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet. 2004;74:1225-1238.
47. Falcar M, Pickles A, Newbury DF, et al. Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav. 2008;7:393-402.
48. Bartlett CW, Flax JF, Logue MW, et al. A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet. 2002;71:45-55.
49. Stein CM, Schick JH, Gerry Taylor H, et al. Pleiotropic effects of a chromosome 3 locus on speech-sound disorder and reading. Am J Hum Genet 2004;74:283-297.
50. Smith SD, Pennington BF, Boada R, Shriberg LD. Linkage of speech sound disorder to reading disability loci. J Child Psychol Psychiatry. 2005;46:1057-1066.
51. Stein CM, Millard C, Kluge A, et al. Speech sound disorder influenced by a locus in 15q14 region. Behav Genet. 2006;36:858-868.
52. Miscimarra L, Stein C, Millard C, et al. Further evidence of pleiotropy influencing speech and language: analysis of the DYX8 region. Hum Hered. 2007;63:47-58.
53. Rice ML, Smith SD, Gayán J. Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment. J Neurodev Disord. 2009;1:264-282.
54. Couto JM, Gomez L, Wigg K, et al. Association of Attention-Deficit/ Hyperactivity Disorder with a Candidate Region for Reading Disabilities on Chromosome 6p. Biol Psychiatry. 2009;66:368-75.
55. Peterson RL, Pennington BF, Shriberg LD, Boada R. What influences literacy outcome in children with speech sound disorder? J Speech Lang Hear Res. 2009;52:1175-1188.
56. Rutter M. Genetic studies of autism: from the 1970s into the millennium. J Abnorm Child Psychol. 2000;28:3-14.
57. Hoekstra RA, Bartels M, Verweij CJ, Boomsma DI. Heritability of autistic traits in the general population. Arch Pediatr Adolesc Med. 2007;161:372-377.
58. Zhao X, Leotta A, Kustanovich V, et al. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A 2007;104:12831-12836.
59. Anello A, Reichenberg A, Luo X, et al. Brief report: parental age and the sex ratio in autism. J Autism Dev Disord. 2009;39:1487-1492.
60. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008;9:341-355.
61. The Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007;39:319-328.
62. Sutcliffe JS. Genetics. Insights into the pathogenesis of autism. Science 2008;321:208-209.
63. Levy SE, Mandell DS, Schultz RT. Autism. Lancet. 2009;374:1627-1638.
64. Morrow EM, Yoo SY, Flavell SW, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008;321:218-223.
65. Conti-Ramsden G, Simkin Z, Botting N. The prevalence of autistic spectrum disorders in adolescents with a history of specific language impairment (SLI). J Child Psychol Psychiatry. 2006;47:621-628.
66. Leyfer OT, Tager-Flusberg H, Dowd M, Tomblin JB, Folstein SE. Overlap between autism and specific language impairment: comparison of Autism Diagnostic Interview and Autism Diagnostic Observation Schedule scores. Autism Res. 2008;1:284-296.
67. Kjelgaard MM, Tager-Flusberg H. An investigation of language impairment in autism: implications for genetic subgroups. Lang Cogn Process. 2001;16:287-308.
68. Bishop DV, Norbury CF. Exploring the borderlands of autistic disorder and specific language impairment: a study using standardised diagnostic instruments. J Child Psychol Psychiatry. 2002;43:917-929.
69. Whitehouse AJ, Barry JG, Bishop DV. The broader language phenotype of autism: a comparison with specific language impairment. J Child Psychol Psychiatry. 2007;48:822-830.
70. Lindgren KA, Folstein SE, Tomblin JB, Tager-Flusberg H. Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives. Autism Res. 2009;2:22-38.
71. Smith SD. Localization and identification of genes influencing language and learning disorders. In: Rice ML, Warren SF, eds. Developmental Language Disorder: From Phenotype to Etiologies. Mahwah, NJ: Lawrence Erlbaum Associates; 2004:329-354.
72. Arking DE, Cutler DJ, Brune CW, et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet. 2008;82:160-164.
73. Alarcon M, Abrahams BS, Stone JL, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autismsusceptibility gene. Am J Hum Genet. 2008;82:150-159.
74. Vernes SC, Newbury DF, Abrahams BS, et al. A functional genetic link between distinct developmental language disorders. N Engl J Med. 2008;359:2337-2345.
75. Levy Y, Ebstein RP. Research review: crossing syndrome boundaries in the search for brain endophenotypes. J Child Psychol Psychiatry. 2009;50:657-668.
76. Guttorm TK, Leppanen PH, Hamalainen JA, Eklund KM, Lyytinen HJ. Newborn event-related potentials predict poorer pre-reading skills in children at risk for dyslexia. J Learn Disabil. In press.